Familial Mediterranean Fever

A usually autosomal recessive inherited inflammatory disorder caused by mutations in the MEFV gene. It is characterized by recurrent painful inflammatory attacks in the abdomen, joints, and chest. The inflammatory attacks are associated with fever. (NCI Thesaurus)

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Familial Juvenile Nephronophthisis

Progressive tubulointerstitial nephritis inherited in an autosomal recessive manner. It is caused by mutations in the NPHP1 gene. Patients present…

Familial isolated hyperparathyroidism

A rare inherited condition in which one or more tumors form in the parathyroid glands (four pea-sized organs found on the thyroid)…

Familial Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy caused by mutations in the genes encoding components of the sarcomere, in the absence of predisposing conditions.

Familial Hemophagocytic Lymphohistiocytosis

A rare, life-threatening disorder usually appearing during the first few months of life. It is caused by abnormalities in the PRF1, UNC13D,…

Familial dysplastic nevi

A condition that runs in certain families in which at least two members have dysplastic nevi (atypical moles) and have a tendency…

Familial Dysautonomia

A congenital disorder caused by mutations in the IKBKAP gene. It is characterized by damage of the sympathetic and parasympathetic and sensory…